Сlinical and genetic characteristics of skeletal cyliopathies – short-rib thoracic dysplasia

BACKGROUND: Ciliopathies include the large group of hereditary diseases caused by mutations in genes encoding primary cilia components. The largest type skeletal ciliopathies is short-rib thoracic dysplasia.
 AIM: This study describes clinical and genetic characteristics Russian patients with STRD or without polydactyly DYNC2H1, DYNC2I2, IFT80, IFT140.
 MATERIALS AND METHODS: A comprehensive examination 10 unrelated children aged from 9 days to years, phenotypic signs dysplasia polydactyly, was conducted. diagnosis confirmed using genealogical analysis, examination, neurological radiography, targeted sequencing a panel consisting 166 responsible for development inherited pathology.
 RESULTS: As result molecular four variants were identified. Seven diagnosed 3, three unique types 11, 2, due DYNC2H1 IFT140 genes, respectively. From 14 detected variants, six identified first time. previously described patient samples, analyzed sample, more than half cases mutation gene, which SRTD 3. differences severity manifestations disease course certain regions have different effect on its protein product function, been shown.
 CONCLUSIONS: results this broaden spectrum DYNC212, causing confirm usefulness whole-exome as most informative method identifying genetically heterogeneous group.